rs191615506
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs191615506(A;A) |
Make rs191615506(A;G) |
Make rs191615506(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | X |
Position | 38352331 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs191615506 |
dbSNP (classic) | rs191615506 |
ClinGen | rs191615506 |
ebi | rs191615506 |
HLI | rs191615506 |
Exac | rs191615506 |
Gnomad | rs191615506 |
Varsome | rs191615506 |
LitVar | rs191615506 |
Map | rs191615506 |
PheGenI | rs191615506 |
Biobank | rs191615506 |
1000 genomes | rs191615506 |
hgdp | rs191615506 |
ensembl | rs191615506 |
geneview | rs191615506 |
scholar | rs191615506 |
rs191615506 | |
pharmgkb | rs191615506 |
gwascentral | rs191615506 |
openSNP | rs191615506 |
23andMe | rs191615506 |
SNPshot | rs191615506 |
SNPdbe | rs191615506 |
MSV3d | rs191615506 |
GWAS Ctlg | rs191615506 |
Max Magnitude | 0 |
[PMID 27569544] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.